Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 MUTATION
PMS2 MUTATION - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder pathogenic mutations have been described so far in the mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2).
- Pubmed
- 25345868
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00732893054616819
Drugs